Department of Gastrointestinal Medical Oncology, University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Division of Hematology/Oncology, Department of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
BMJ. 2020 Dec 7;371:m4050. doi: 10.1136/bmj.m4050.
Cancers of unknown primary (CUPs) are histologically confirmed, metastatic malignancies with a primary tumor site that is unidentifiable on the basis of standard evaluation and imaging studies. CUP comprises 2-5% of all diagnosed cancers worldwide and is characterized by early and aggressive metastasis. Current standard evaluation of CUP requires histopathologic evaluation and identification of favorable risk subtypes that can be more definitively treated or have superior outcomes. Current standard treatment of the unfavorable risk subtype requires assessment of prognosis and consideration of empiric chemotherapy. The use of molecular tissue of origin tests to identify the likely primary tumor site has been extensively studied, and here we review the rationale and the evidence for and against the use of such tests in the assessment of CUPs. The expanding use of next generation sequencing in advanced cancers offers the potential to identify a subgroup of patients who have actionable genomic aberrations and may allow for further personalization of therapy.
原发灶不明癌（CUP）是组织学确诊的转移性恶性肿瘤，其原发灶基于标准评估和影像学研究无法确定。CUP 占全球所有诊断癌症的 2-5%，其特征为早期和侵袭性转移。目前 CUP 的标准评估需要进行组织病理学评估，并确定可更明确治疗或具有更好结果的有利风险亚型。目前对不利风险亚型的标准治疗需要评估预后并考虑经验性化疗。使用分子组织起源测试来确定可能的原发肿瘤部位已得到广泛研究，在此我们回顾了在评估 CUP 中使用此类测试的原理、证据及正反两方面的观点。下一代测序在晚期癌症中的广泛应用为识别具有可操作基因组异常的患者亚组提供了可能，并可能进一步实现治疗的个体化。
